Naslov
S-Adenosylhomocysteine hydrolase deficiency

Autori
Barić, Ivo ; Fumić, Ksenija ; Ćuk, Mario ; Vugrek, Oliver ; Mudd, SH

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstract book of 13. Padiatrisches Stoffwechsel-Symposium, Graz / - Graz, 2008

Skup
13. Padiatrisches Stoffwechsel-Symposium

Mjesto i datum
Graz, Austrija, 24.04.2008. - 26.04.2008

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
S-Adenosylhomocysteine hydrolase deficiency

Sažetak
S-Adenosylhomocysteine hydrolase (AdoHcy) deficiency is a disorder in methionine metabolism. The enzyme catalyzes the hydrolysis of S-adenosylhomocysteine to homocysteine and adenosine. Its deficiency in human was first reported in 2003. Since then few other patients have been identified. The limited experience accumulated so far has shown that major clinical problems have been hypotonia, probably due to congenital myopathy, delayed psychomotor development (later mental retardation), and liver disease, mainly as synthetic insufficiency. Attention deficit-hyperactivity disorder could be a frequent problem. More severe form could be lethal due to early respiratory insufficiency, and can be associated with liver failure and fetal hydrops. Major biochemical abnormalities were clearly increased creatine kinase and mildly elevated aminotransferases. Diagnostic specifities are striking elevations of plasma AdoHcy and AdoMet. Hypermethioninemia is not a consistent finding, at least not in early infancy. The pathogenesis of the disease is poorly understood, but inhibition of AdoMet-dependent methyltransferases by AdoHcy is considered to be the most important factor. Treatment by reduced methionine intake and administration of creatine and phosphatidylcholine might be beneficial in some patients, in particular if started early.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA